MCID: CRT065
MIFTS: 19

Cortisone Reductase Deficiency 1

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Cortisone Reductase Deficiency 1

MalaCards integrated aliases for Cortisone Reductase Deficiency 1:

Name: Cortisone Reductase Deficiency 1 57 12 75 29 13 6 73
Cortrd1 57 12 75
Cortisone Reductase Deficiency, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cortisone reductase deficiency 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 604931
Disease Ontology 12 DOID:0090141
NCIt 50 C131849
MedGen 42 C3551716
MeSH 44 D008661
UMLS 73 C3551716

Summaries for Cortisone Reductase Deficiency 1

OMIM : 57 Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; 600713). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; 138090) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by Lavery et al., 2008). (604931)

MalaCards based summary : Cortisone Reductase Deficiency 1, also known as cortrd1, is related to cortisone reductase deficiency 2. An important gene associated with Cortisone Reductase Deficiency 1 is H6PD (Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase). Affiliated tissues include pituitary, and related phenotypes are infertility and oligomenorrhea

UniProtKB/Swiss-Prot : 75 Cortisone reductase deficiency 1: An autosomal recessive error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males.

Disease Ontology : 12 A cortisone reductase deficiency that has material basis in homozygous or compound heterozygous mutation in the H6PD gene on chromosome 1p36.

Related Diseases for Cortisone Reductase Deficiency 1

Diseases related to Cortisone Reductase Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cortisone reductase deficiency 2 11.0

Symptoms & Phenotypes for Cortisone Reductase Deficiency 1

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity
central fat distribution

Genitourinary Internal Genitalia Female:
oligomenorrhea
infertility

Skin Nails Hair Hair:
hirsutism
androgenic alopecia (in some patients)

Genitourinary External Genitalia Male:
precocious puberty, gonadotropin-independent

Skin Nails Hair Skin:
acne

Endocrine Features:
hyperandrogenism
delayed conversion of oral cortisone acetate to plasma cortisol
low tetrahydrocortisol (thf) plus 5-alpha-thf/tetrahydrocortisone (the) ratio
low urinary cortols-to-cortolone ratio
low to normal level of cortisol metabolites
more

Clinical features from OMIM:

604931

Human phenotypes related to Cortisone Reductase Deficiency 1:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 oligomenorrhea 32 HP:0000876
3 hirsutism 32 HP:0001007
4 acne 32 HP:0001061
5 obesity 32 HP:0001513

Drugs & Therapeutics for Cortisone Reductase Deficiency 1

Search Clinical Trials , NIH Clinical Center for Cortisone Reductase Deficiency 1

Genetic Tests for Cortisone Reductase Deficiency 1

Genetic tests related to Cortisone Reductase Deficiency 1:

# Genetic test Affiliating Genes
1 Cortisone Reductase Deficiency 1 29 H6PD

Anatomical Context for Cortisone Reductase Deficiency 1

MalaCards organs/tissues related to Cortisone Reductase Deficiency 1:

41
Pituitary

Publications for Cortisone Reductase Deficiency 1

Variations for Cortisone Reductase Deficiency 1

UniProtKB/Swiss-Prot genetic disease variations for Cortisone Reductase Deficiency 1:

75
# Symbol AA change Variation ID SNP ID
1 H6PD p.Arg453Gln VAR_026487 rs6688832
2 H6PD p.Pro146Leu VAR_069193

ClinVar genetic disease variations for Cortisone Reductase Deficiency 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 H6PD NM_004285.3(H6PD) insertion Pathogenic rs606231222 GRCh38 Chromosome 1, 9264353: 9264354
2 H6PD NM_004285.3(H6PD) insertion Pathogenic rs606231222 GRCh37 Chromosome 1, 9324412: 9324413
3 H6PD NM_004285.3(H6PD): c.960G> A (p.Val320=) single nucleotide variant Pathogenic rs398122816 GRCh37 Chromosome 1, 9322332: 9322332
4 H6PD NM_004285.3(H6PD): c.960G> A (p.Val320=) single nucleotide variant Pathogenic rs398122816 GRCh38 Chromosome 1, 9262273: 9262273
5 H6PD NM_004285.3(H6PD): c.1076G> A (p.Gly359Asp) single nucleotide variant Pathogenic rs387907167 GRCh37 Chromosome 1, 9323628: 9323628
6 H6PD NM_004285.3(H6PD): c.1076G> A (p.Gly359Asp) single nucleotide variant Pathogenic rs387907167 GRCh38 Chromosome 1, 9263569: 9263569
7 H6PD NM_004285.3(H6PD): c.948C> G (p.Tyr316Ter) single nucleotide variant Pathogenic rs398122817 GRCh37 Chromosome 1, 9322320: 9322320
8 H6PD NM_004285.3(H6PD): c.948C> G (p.Tyr316Ter) single nucleotide variant Pathogenic rs398122817 GRCh38 Chromosome 1, 9262261: 9262261
9 H6PD NM_004285.3(H6PD): c.325delC (p.Arg109Alafs) deletion Pathogenic rs398122818 GRCh37 Chromosome 1, 9305318: 9305318
10 H6PD NM_004285.3(H6PD): c.325delC (p.Arg109Alafs) deletion Pathogenic rs398122818 GRCh38 Chromosome 1, 9245259: 9245259

Expression for Cortisone Reductase Deficiency 1

Search GEO for disease gene expression data for Cortisone Reductase Deficiency 1.

Pathways for Cortisone Reductase Deficiency 1

GO Terms for Cortisone Reductase Deficiency 1

Sources for Cortisone Reductase Deficiency 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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